Canonical Allele Identifier: CA383682467

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083502T>A (hg19) ; chr12:g.6974340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974340T>A , CM000674.2:g.6974340T>A	GRCh38
NC_000012.11:g.7083502T>A , CM000674.1:g.7083502T>A	GRCh37
NC_000012.10:g.6953763T>A	NCBI36
NG_021408.1:g.8560T>A
NG_021408.2:g.8560T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.170T>A MANE Select	ENSP00000470560.1:p.Val57Glu
ENST00000261406.7:c.152T>A	ENSP00000476966.2:p.Val51Glu
ENST00000539196.2:c.33T>A
ENST00000599672.5:c.170T>A	ENSP00000470560.1:p.Val57Glu
ENST00000607161.5:c.173T>A	ENSP00000480420.1:p.Val58Glu
ENST00000611981.1:n.181T>A
ENST00000620255.1:n.159T>A
NM_006331.7:c.170T>A	NP_006322.4:p.Val57Glu
XM_011520907.1:c.170T>A	XP_011519209.1:p.Val57Glu
NM_001320049.1:c.170T>A	NP_001306978.1:p.Val57Glu
NR_135131.1:n.313T>A
NM_006331.8:c.170T>A MANE Select	NP_006322.4:p.Val57Glu
NM_001320049.2:c.170T>A	NP_001306978.1:p.Val57Glu
NR_135131.2:n.181T>A